Canonical Allele Identifier: CA950430049

Gene: LUM

Linked Data

• dbSNP Id: rs1880094032
• gnomAD v3: 12-91107307-AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG-A
• gnomAD v4: 12-91107307-AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107309_91107338del , CM000674.2:g.91107309_91107338del	GRCh38
NC_000012.11:g.91501086_91501115del , CM000674.1:g.91501086_91501115del	GRCh37
NC_000012.10:g.90025217_90025246del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+781_862+810del MANE Select	ENSP00000266718.4:n.862+781_862+810del
ENST00000266718.4:c.862+781_862+810del	ENSP00000266718.4:n.862+781_862+810del
ENST00000546642.1:n.612+781_612+810del
ENST00000548071.1:n.255+781_255+810del
NM_002345.3:c.862+781_862+810del	NP_002336.1:n.862+781_862+810del
NM_002345.4:c.862+781_862+810del MANE Select	NP_002336.1:n.862+781_862+810del